{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:04:22Z","timestamp":1790748262643,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T00:00:00Z","timestamp":1573776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Undiagnosed Rare Disease Program of Catalonia","award":["SLT002\/16\/00174"],"award-info":[{"award-number":["SLT002\/16\/00174"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Okur\u2010Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to <jats:italic>CSNK2A1<\/jats:italic> mutations. It is characterized by intellectual disability, hypotonia, feeding and speech difficulties, dysmorphic features, and multisystem involvement. To date, less than 30 patients with OCNS have been described in detail in the literature, primarily in Asian populations. Here, we report a 5\u2010year\u2010old Spanish female with OCNS arising from a novel <jats:italic>CSNK2A1<\/jats:italic> mutation c.149A&gt;G, p.Tyr50Cys. Although her clinical features were compatible with OCNS syndrome, magnetic resonance imaging unexpectedly showed a duplication of the pituitary gland, a clinical finding not previously related to any known genetic condition. Other novel signs were an absence of the olfactory bulbs and multiple duplications of cervical vertebrae. We suggest that the midline abnormalities may be a significant part of this condition and lead to diagnostic suspicion. However, further descriptions are needed.<\/jats:p>","DOI":"10.1002\/ajmg.a.61405","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T09:26:05Z","timestamp":1573809965000},"page":"20-24","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Okur\u2010Chung neurodevelopmental syndrome in a patient from Spain"],"prefix":"10.1002","volume":"182","author":[{"given":"Antonio F.","family":"Martinez\u2010Monseny","sequence":"first","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00eddac","family":"Casas\u2010Alba","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9sar","family":"Arjona","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merc\u00e8","family":"Bolasell","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Casano","sequence":"additional","affiliation":[{"name":"Endocrinology Department Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Muchart","sequence":"additional","affiliation":[{"name":"Radiology Department Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Ramos","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loreto","family":"Martorell","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesc","family":"Palau","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  Barcelona Spain"},{"name":"Division of Pediatrics, Faculty of Medicine and Health Sciences University of Barcelona  Barcelona Spain"},{"name":"Clinic Institute of Medicine and Dermatology (ICMiD) Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Garc\u00eda\u2010Alix","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  Barcelona Spain"},{"name":"Division of Pediatrics, Faculty of Medicine and Health Sciences University of Barcelona  Barcelona Spain"},{"name":"Clinic Institute of Medicine and Dermatology (ICMiD) Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2056-2428","authenticated-orcid":false,"given":"Mercedes","family":"Serrano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,15]]},"reference":[{"key":"e_1_2_7_2_1","article-title":"DPG\u2010plus syndrome: New report of a rare entity","volume":"2015","author":"Azurara L.","year":"2015","journal-title":"BML Case Reports"},{"key":"e_1_2_7_3_1","first-page":"368","article-title":"A case of Okur\u2010Chung syndrome caused by CSNK2A1 gene variation and review of literature","volume":"57","author":"Duan H. L.","year":"2019","journal-title":"Zhonghua er ke za zhi Chinese"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1661-y"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2017-00581"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M212260200"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61405","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61405","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61405","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:24:17Z","timestamp":1693329857000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,15]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/ajmg.a.61405"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61405","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,15]]},"assertion":[{"value":"2019-07-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}